Definition
Definition
David Bloom syndrome is a set of of symptoms affecting boys more frequently than girls, and characterized by a dwarfism of congenital origin, associated with a red coloration of the face (erythema), with some telangiectasias appearing very early.
Generalities
One of the major characteristics of this syndrome is the intolerance of skin , light, and the appearance of theerythema appearing in a butterfly form (close to the lupus erythematous).
History
This disease was described in 1954 by David Bloom.
Symptoms
Symptoms
Symptoms of David Bloom syndrome include:
- Growth retardation taking place inside the uterus (intrauterine). The adult's height is around 1 m (according to German's studies in 40).
- Presence of a erythema (red coloring) with telangiectasias, which are dilations of the small vessels cutaneous, forming fine red lines, sometimes purple, ranging from a few millimeters to a few centimeters in length. They often form networks called stellar angiomas (interlacing of small vessels in the shape of a star). Sometimes, apart from the face, erythema also appears on the hands and forearms, and is very sensitive to light and sun, which causes blisters.
- Narrow face, which some specialized medical teams call bird face.
- More rarely, anomalies of the skeleton of the fingers appear. They are characterized by the fusion of the fingers together, at the level of the superficial planes (webbed fingers), but also of the bony phalanges in their entirety (more exceptionally): the syndactyly. The clinodactyly (deviation of the fingers or toes towards the sides of the hand or foot), is also possible as well as the occurrence of supernumerary fingers, or the absence of a metatarsal bone (area of the foot).
- Some patients also present with a dislocation hip, and dental abnormalities type of absence of lateral incisors, genitourinary anomalies, immune disorders such as deficiency.
- L'insulin resistance corresponds to the ineffectiveness of insulin, nevertheless secreted normally. Sometimes, the secretion is done in large quantities from the pancreas which does not prevent this hormone from ensuring the normal absorption of sugar (glucose) by the body's tissues, nor the regulation of sugar production by the hepatic gland (liver).
Cause
Cause
This pathology is due to chromosomal abnormalities multiple break type of the chromatin, chromosomes and other rearrangements of the cores of games.
These changes are also found during another disease:Fanconi anemia.
Chromatin is a substance described by Miescher in 1869, and named by Fleming in 1882. It is arranged in the nucleus of the cell in the form of networks. Composed primarily ofDeoxyribonucleic acid, and others protein called histones, chromatin transforms into chromosomes after passing through a chromatin stage, during cell division (mitosis). This is the support of theheredity.
Bloom's disease is transmitted in an autosomal recessive manner, meaning that both parents must carry the genetic abnormality for the child to have the disease.
Treatment
Treatment
It's more about prevention than treatment.
Careful monitoring to quickly detect the onset of cancer (leukemia in particular) is necessary.
Evolution
Evolution
The evolution of David Bloom syndrome is sometimes pejoratively.
In fact, we note the occurrence of malignant tumors affecting any part of the body (leukemia in particular).
References
Bibliography
German J. Bloom's syndrome XX. The first 100 cancers. Cancer Genet Cytogenet 1997; 93:100-6. German J. Bloom syndrome: a Mendelian prototype of somatic mutational disease. Medicine (Baltimore) 1993; 72:393-406.